rs142289318
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017433.5(MYO3A):c.1796G>A(p.Ser599Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000223 in 1,613,874 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S599I) has been classified as Uncertain significance.
Frequency
Consequence
NM_017433.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MYO3A | NM_017433.5 | c.1796G>A | p.Ser599Asn | missense_variant | 18/35 | ENST00000642920.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MYO3A | ENST00000642920.2 | c.1796G>A | p.Ser599Asn | missense_variant | 18/35 | NM_017433.5 | P1 | ||
MYO3A | ENST00000543632.5 | c.1776+24013G>A | intron_variant | 1 | |||||
MYO3A | ENST00000642197.1 | n.2000G>A | non_coding_transcript_exon_variant | 18/27 | |||||
MYO3A | ENST00000647478.1 | c.1777-4703G>A | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152108Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251180Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135740
GnomAD4 exome AF: 0.0000233 AC: 34AN: 1461766Hom.: 0 Cov.: 31 AF XY: 0.0000275 AC XY: 20AN XY: 727190
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152108Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74298
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at